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A note from Dr. Hammer

Dear Families,

Aside from being a research scientist specializing in genetics, like many of you I am a parent of a child with an SCN8A mutation. While each of our journeys is unique in many ways, we all have shared the horror of not being able to “fix” the terrible burden this mutation places on our children and our families. And most of us share the frustration that so few doctors understand the nature of the disorder or how to effectively treat our children.

But the amazing thing is that each of us—and more so all of us together—can in fact do something very significant to help our children, their doctors, and the researchers who are pursuing different approaches to uncovering the mysteries of SCN8A.

In 2012, my laboratory at the University of Arizona published the first case of an SCN8A mutation as a cause of a seizure disorder with associated major developmental delays and regression. As a parent with no answers over a period of 15 years, I was ultimately motivated to use the tools of my trade—genetics and genomics—to search for the cause of my daughter Shay’s intractable epilepsy. Since 2012, over 60 cases of SCN8A have been published. But these publications cannot keep up with the rapid and continuous increase in the number of individuals diagnosed with SCN8A, or with the increasing diversity of symptoms exhibited by those with SCN8A mutations. Unfortunately, given the competitive nature of publication and the limitations of journal space, most new cases will not be published for doctors and researchers to glean critical information about SCN8A-related disorders.

However, we as parents can do something to remedy this situation and to help our children. There is no better way to support cutting edge research than by providing basic and vital data about our children, their medical and developmental history, and the medications that seem to help or to hurt them. This kind of data is the essential foundation of SCN8A research. By participating in the SCN8A Registry, we can all play an important role in better understanding how different mutations alter SCN8A function and lead to the widely varying clinical features among our children.

The time is uniquely ripe for this information to have an enormous impact on the field—in coordination with outreach and awareness efforts that have created a connection among families, doctors, researchers, and pharmaceutical companies. These stakeholders are greatly impressed with what we have already learned from our children, and are inspired to carry out the research that will ultimately lead to new treatments of SCN8A-related disorders.